773750003: Flat face, microstomia, ear anomaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Flat face, microstomia, ear anomaly syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome

\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Flat face, microstomia, ear anomaly syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Flat face, microstomia, ear anomaly syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Flat face, microstomia, ear anomaly syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Flat face, microstomia, ear anomaly syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Flat face, microstomia, ear anomaly syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Flat face, microstomia, ear anomaly syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Flat face, microstomia, ear anomaly syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Flat face, microstomia, ear anomaly syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Flat face, microstomia, ear anomaly syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Flat face, microstomia, ear anomaly syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Flat face, microstomia, ear anomaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Flat face, microstomia, ear anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Flat face, microstomia, ear anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Flat face, microstomia, ear anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Flat face, microstomia, ear anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Flat face, microstomia, ear anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Flat face, microstomia, ear anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Flat face, microstomia, ear anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Flat face, microstomia, ear anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Flat face, microstomia, ear anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Flat face, microstomia, ear anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Flat face, microstomia, ear anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Microstomia\Flat face, microstomia, ear anomaly syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3726270013 Simosa Penchaszadeh Bustos syndrome en Synonym Active Case sensitive SNOMED CT core

3726271012 Blepharophimosis, telecanthus, microstomia syndrome en Synonym Active Case insensitive SNOMED CT core

3726272017 Flat face, microstomia, ear anomaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3726273010 Flat face, microstomia, ear anomaly syndrome en Synonym Active Case insensitive SNOMED CT core

3726274016 Simosa craniofacial syndrome en Synonym Active Case sensitive SNOMED CT core

3726276019 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Flat face, microstomia, ear anomaly syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	3
Flat face, microstomia, ear anomaly syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Flat face, microstomia, ear anomaly syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Flat face, microstomia, ear anomaly syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Flat face, microstomia, ear anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Flat face, microstomia, ear anomaly syndrome	Is a	Microstomia	true	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Flat face, microstomia, ear anomaly syndrome	Finding site	Mouth region structure	true	Inferred relationship	Some	3
Flat face, microstomia, ear anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Flat face, microstomia, ear anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Flat face, microstomia, ear anomaly syndrome	Is a	Congenital anomaly of ear	true	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Flat face, microstomia, ear anomaly syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome	Finding site	Ear structure	true	Inferred relationship	Some	2
Flat face, microstomia, ear anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Flat face, microstomia, ear anomaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3726270013	Simosa Penchaszadeh Bustos syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3726271012	Blepharophimosis, telecanthus, microstomia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3726272017	Flat face, microstomia, ear anomaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3726273010	Flat face, microstomia, ear anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3726274016	Simosa craniofacial syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3726276019	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated.	en	Definition	Active	Case sensitive	SNOMED CT core